SFARI is pleased to announce that it has awarded 28 grants (15 Pilot Awards and 13 Research Awards) in response to the 2015 Pilot and Research Awards request for applications.
Autism spectrum disorders (ASDs) and related neuropsychiatric diseases, such as schizophrenia, are thought to involve alterations in neural circuitry in different brain regions, including the hippocampus, an area critical for memory formation. Most studies on the role of the hippocampus in learning and memory have focused on information flow through the hippocampal CA3, CA1 and dentate gyrus subregions. Much less is known about the hippocampal CA2 region, a relatively small area that is altered in individuals with schizophrenia and bipolar disorder. The CA2 region is of particular interest in ASD because it has high levels of receptors for the social hormones oxytocin and vasopressin, which have been implicated in ASD.
Many of the social and cognitive behavioral impairments associated with autism spectrum disorders (ASDs) are likely caused by changes in early brain development that alter the formation of neural circuits, and in particular, the neural circuitry of the cerebral cortex. Because early brain development is completed long before the onset of any identifiable behavioral changes, most studies of the developmental origins of autism have focused on animal models of genetic syndromes or rare single-gene mutations that lead to ASD-like behaviors. It is not clear how these different syndromes may be related to one another, or how these distinct genetic changes can each lead to similar behavioral outcomes.
Recent discoveries of contrasting phenotypes caused by deletion vs. duplication events within the same genetic locus suggest that investigation of gene dosage effects may provide valuable clues into how copy number variations (CNVs), or duplications or deletions of stretches of DNA, disrupt the brain and ultimately contribute to disease pathogenesis. However, almost nothing is known about the consequences of such reciprocal imbalances on brain function or behavior.
André Fenton and his group at New York University hypothesize that a common pathophysiology underlies the failures of cognitive flexibility that are characteristic of autism. Fenton aims to investigate the widely held ‘discoordination’ hypothesis that in individuals with autism, the neural computations within and between networks of cells that depend upon precisely coordinated neural activity are impaired.
Duplication of a small region on chromosome 22, resulting in 22q11.2 duplication syndrome, has been associated with autism, but to date there has not been a large-scale cohort study of this association.